Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_004463.2(FGD1):c.2761C>T (p.Arg921Ter) | 2245 | FGD1 | Uncertain significance | 869312743 | RCV000210282; | N | MedGen:C0175701,OMIM:305400,ORPHA:915,SNOMED CT:14921002 | X | 54472667 | 54472667 | NM_004463.2:c.2761C>T | NP_004454.2:p.Arg921Ter | NC_000023.10:g.54472667G>A | - | C0175701 305400 Aarskog syndrome | | |
NM_004463.2(FGD1):c.2135dupC (p.Pro713Thrfs) | 2245 | FGD1 | Pathogenic | 398124162 | RCV000174748; RCV000081093; | N | MedGen:C0175701,OMIM:305400,ORPHA:915,SNOMED CT:14921002; MedGen:CN221809 | X | 54476105 | 54476105 | NM_004463.2:c.2135dupC | NP_004454.2:p.Pro713Thrfs | NC_000023.10:g.54476105dupG | - | C0175701 305400 Aarskog syndrome; CN221809 not provided | | |
NM_004463.2(FGD1):c.2112_2113insTT (p.Asn705Leufs) | 2245 | FGD1 | Pathogenic | 398124161 | RCV000174747; RCV000081092; | N | MedGen:C0175701,OMIM:305400,ORPHA:915,SNOMED CT:14921002; MedGen:CN221809 | X | 54476127 | 54476128 | NM_004463.2:c.2112_2113insTT | NP_004454.2:p.Asn705Leufs | NC_000023.10:g.54476127_54476128insAA | - | C0175701 305400 Aarskog syndrome; CN221809 not provided | | |
NM_004463.2(FGD1):c.2016-2A>G | 2245 | FGD1 | Pathogenic | 794727099 | RCV000174537; | N | MedGen:C0175701,OMIM:305400,ORPHA:915,SNOMED CT:14921002 | X | 54476736 | 54476736 | NM_004463.2:c.2016-2A>G | | NC_000023.10:g.54476736T>C | - | C0175701 305400 Aarskog syndrome | | |
NM_004463.2(FGD1):c.1966C>T (p.Arg656Ter) | 2245 | FGD1 | Pathogenic | 387906718 | RCV000022866; | N | MedGen:C0175701,OMIM:305400,ORPHA:915,SNOMED CT:14921002 | X | 54481930 | 54481930 | NM_004463.2:c.1966C>T | NP_004454.2:p.Arg656Ter | NC_000023.10:g.54481930G>A | OMIM Allelic Variant:300546.0012 | C0175701 305400 Aarskog syndrome | | |
NM_004463.2(FGD1):c.1829G>A (p.Arg610Gln) | 2245 | FGD1 | Pathogenic | 28935497 | RCV000011572; | N | MedGen:C0175701,OMIM:305400,ORPHA:915,SNOMED CT:14921002 | X | 54482666 | 54482666 | NM_004463.2:c.1829G>A | NP_004454.2:p.Arg610Gln | NC_000023.10:g.54482666C>T | OMIM Allelic Variant:300546.0002 | C0175701 305400 Aarskog syndrome | | |
NM_004463.2(FGD1):c.1565G>A (p.Arg522His) | 2245 | FGD1 | Pathogenic | 137853264 | RCV000011573; | N | MedGen:C0175701,OMIM:305400,ORPHA:915,SNOMED CT:14921002 | X | 54491955 | 54491955 | NM_004463.2:c.1565G>A | NP_004454.2:p.Arg522His | NC_000023.10:g.54491955C>T | OMIM Allelic Variant:300546.0003 | C0175701 305400 Aarskog syndrome | | |
NM_004463.2(FGD1):c.1468C>T (p.Gln490Ter) | 2245 | FGD1 | Pathogenic | 398124156 | RCV000179887; RCV000081085; | N | MedGen:C0175701,OMIM:305400,ORPHA:915,SNOMED CT:14921002; MedGen:CN221809 | X | 54492158 | 54492158 | NM_004463.2:c.1468C>T | NP_004454.2:p.Gln490Ter | NC_000023.10:g.54492158G>A | - | C0175701 305400 Aarskog syndrome; CN221809 not provided | | |
NM_004463.2(FGD1):c.1396A>G (p.Met466Val) | 2245 | FGD1 | Pathogenic | 137853267 | RCV000011581; | N | MedGen:C0175701,OMIM:305400,ORPHA:915,SNOMED CT:14921002 | X | 54492230 | 54492230 | NM_004463.2:c.1396A>G | NP_004454.2:p.Met466Val | NC_000023.10:g.54492230T>C | OMIM Allelic Variant:300546.0011 | C0175701 305400 Aarskog syndrome | | |
NM_004463.2(FGD1):c.1328G>T (p.Arg443Leu) | 2245 | FGD1 | Pathogenic | 137853266 | RCV000011579; | N | MedGen:C0175701,OMIM:305400,ORPHA:915,SNOMED CT:14921002 | X | 54494229 | 54494229 | NM_004463.2:c.1328G>T | NP_004454.2:p.Arg443Leu | NC_000023.10:g.54494229C>A | OMIM Allelic Variant:300546.0009 | C0175701 305400 Aarskog syndrome | | |
NM_004463.2(FGD1):c.1287T>G (p.Tyr429Ter) | 2245 | FGD1 | Pathogenic | 398124155 | RCV000179441; RCV000081084; | N | MedGen:C0175701,OMIM:305400,ORPHA:915,SNOMED CT:14921002; MedGen:CN221809 | X | 54494270 | 54494270 | NM_004463.2:c.1287T>G | NP_004454.2:p.Tyr429Ter | NC_000023.10:g.54494270A>C | - | C0175701 305400 Aarskog syndrome; CN221809 not provided | | |
NM_004463.2(FGD1):c.1223G>A (p.Arg408Gln) | 2245 | FGD1 | Pathogenic | 137853265 | RCV000011577; | N | MedGen:C0175701,OMIM:305400,ORPHA:915,SNOMED CT:14921002 | X | 54494334 | 54494334 | NM_004463.2:c.1223G>A | NP_004454.2:p.Arg408Gln | NC_000023.10:g.54494334C>T | OMIM Allelic Variant:300546.0007 | C0175701 305400 Aarskog syndrome | | |
NM_004463.2(FGD1):c.527dupC (p.Leu177Thrfs) | 2245 | FGD1 | Pathogenic | 756586058 | RCV000177205; | N | MedGen:C0175701,OMIM:305400,ORPHA:915,SNOMED CT:14921002 | X | 54497148 | 54497148 | NM_004463.2:c.527dupC | NP_004454.2:p.Leu177Thrfs | NC_000023.10:g.54497148dupG | - | C0175701 305400 Aarskog syndrome | | |
NM_004463.2(FGD1):c.175C>T (p.Gln59Ter) | 2245 | FGD1 | Pathogenic | 398124160 | RCV000173343; RCV000081090; | N | MedGen:C0175701,OMIM:305400,ORPHA:915,SNOMED CT:14921002; MedGen:CN221809 | X | 54521691 | 54521691 | NM_004463.2:c.175C>T | NP_004454.2:p.Gln59Ter | NC_000023.10:g.54521691G>A | HGMD:CM116071 | C0175701 305400 Aarskog syndrome; CN221809 not provided | | |